A novel homozygous mutation in the PADI6 gene causes early embryo arrest.

ABSTRACT:

Background

It has been proved that mutations in the PADI6 gene can cause early embryo arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic spectrum of early embryo arrest.

Methods

Peripheral blood of a patient diagnosed with early embryo arrest was collected for whole-exome sequencing. Sanger sequencing was performed to confirm this mutation. The effects of the variant were investigated in human embryonic kidney 293T (HEK293T) cells using western blotting, real-time quantitative polymerase chain reaction, and immunofluorescence.

Results

A novel homozygous mutation in PADI6 was identified in the proband. The patient carried a frameshift insertion mutation c.558dupA (p.Thr187Asnfs*48), which was located in the protein arginine deimi

SUBMITTER: Wang X 

PROVIDER: S-EPMC9463787 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature